Variant #0000624934 (NC_000017.10:g.59934594T>C, BRIP1(NM_032043.2):c.206-2A>G)

Individual ID 00269927
Chromosome 17
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
Classification method ACMG
Clinical classification likely pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.59934594T>C
DNA change (hg38) g.61857233T>C
Published as -
ISCN -
DB-ID BRIP1_000193
Variant remarks CRC at 42 years, mother breast carcinoma at age 42, half-sister ms breast carcinoma at age 44, half-sister ms BC at age 44 LJ, father CRC at age 70J.
Reference -
ClinVar ID -
dbSNP ID rs786203700
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0 View details
Owner Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
BRIP1 NM_032043.2 +?/. - c.206-2A>G r.(?) p.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000271080 DNA SEQ-NG-S - - - 1 Andreas Laner